Varaico: Literature-Extracted Genetic Variants

Gene:ISG15
Variant:p.M1_G2Splc
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ISG15

NM_005101.4:p.M1_G2Splc

Associated Papers

First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation.

Napoleao SMDS et al.

Journal of Clinical Immunology, 2024

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.

Al-Mayouf SM et al.

Modern Rheumatology, 2021

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis.

Al-Mayouf SM et al.

Journal of Clinical Immunology, 2021

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.

Martin-Fernandez M et al.

Cell Reports, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."